Canonical Allele Identifier: CA397724869

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127186T>C (hg19) ; chr17:g.7223867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223867T>C , CM000679.2:g.7223867T>C	GRCh38
NC_000017.10:g.7127186T>C , CM000679.1:g.7127186T>C	GRCh37
NC_000017.9:g.7067910T>C	NCBI36
NG_007975.1:g.9034T>C
NG_008391.2:g.1184A>G
NG_033038.1:g.15678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1324T>C MANE Select	ENSP00000349297.5:p.Phe442Leu
ENST00000322910.9:c.*1279T>C	ENSP00000325395.5:n.*1279T>C
ENST00000350303.9:c.1258T>C	ENSP00000344152.5:p.Phe420Leu
ENST00000356839.9:c.1324T>C	ENSP00000349297.5:p.Phe442Leu
ENST00000542255.6:c.182T>C
ENST00000543245.6:c.1393T>C	ENSP00000438689.2:p.Phe465Leu
ENST00000578711.1:n.363T>C
ENST00000579425.5:n.348T>C
ENST00000579546.1:c.161T>C
ENST00000583074.5:n.43T>C
ENST00000583850.5:n.99T>C
ENST00000583858.5:c.353T>C
ENST00000585203.6:n.523+9T>C
NM_000018.3:c.1324T>C	NP_000009.1:p.Phe442Leu
NM_001033859.2:c.1258T>C	NP_001029031.1:p.Phe420Leu
NM_001270447.1:c.1393T>C	NP_001257376.1:p.Phe465Leu
NM_001270448.1:c.1096T>C	NP_001257377.1:p.Phe366Leu
XM_006721516.2:c.1324T>C	XP_006721579.2:p.Phe442Leu
XM_011523829.1:c.1324T>C	XP_011522131.1:p.Phe442Leu
XM_011523830.1:c.1324T>C	XP_011522132.1:p.Phe442Leu
XR_934021.1:n.1431T>C
XR_934022.1:n.1431T>C
XR_934023.1:n.1431T>C
XM_006721516.3:c.1324T>C	XP_006721579.2:p.Phe442Leu
XM_011523829.2:c.1324T>C	XP_011522131.1:p.Phe442Leu
XM_011523830.2:c.1324T>C	XP_011522132.1:p.Phe442Leu
XM_024450741.1:c.1324T>C	XP_024306509.1:p.Phe442Leu
XR_934021.2:n.1383T>C
XR_934022.2:n.1383T>C
XR_934023.2:n.1383T>C
NM_000018.4:c.1324T>C MANE Select	NP_000009.1:p.Phe442Leu
NM_001033859.3:c.1258T>C	NP_001029031.1:p.Phe420Leu
NM_001270447.2:c.1393T>C	NP_001257376.1:p.Phe465Leu
NM_001270448.2:c.1096T>C	NP_001257377.1:p.Phe366Leu